Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 100

1.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, da Cunha BS, Delaney LA, Destrée A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Héron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, Jacob CM, Kant SG, Kim CA, Kirk EP, Knoers NV, Lacombe D, Lee C, Lo IF, Lucas LS, Mari F, Mericq V, Moilanen JS, Møller ST, Moortgat S, Pilz DT, Pope K, Price S, Renieri A, Sá J, Schoots J, Silveira EL, Simon ME, Slavotinek A, Temple IK, van der Burgt I, de Vries BB, Weisfeld-Adams JD, Whiteford ML, Wierczorek D, Wit JM, Yee CF, Beaulieu CL; FORGE Canada Consortium, White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM.

Orphanet J Rare Dis. 2013 Apr 27;8:63. doi: 10.1186/1750-1172-8-63.

2.

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, Odent S, Nitschke P, Munnich A, Faivre L, Cormier-Daire V.

Hum Mutat. 2013 Jan;34(1):88-92. doi: 10.1002/humu.22216. Epub 2012 Oct 16.

PMID:
22965468
3.

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium, Majewski J, Bulman DE, White SM, Boycott KM.

Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19.

4.

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

Seifert W, Meinecke P, Krüger G, Rossier E, Heinritz W, Wüsthof A, Horn D.

BMC Med Genet. 2014 Nov 30;15:127. doi: 10.1186/s12881-014-0127-0.

5.

Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.

Nagasaki K, Asami T, Sato H, Ogawa Y, Kikuchi T, Saitoh A, Ogata T, Fukami M.

Am J Med Genet A. 2014 Mar;164A(3):731-5. doi: 10.1002/ajmg.a.36314. Epub 2013 Dec 20.

PMID:
24375913
6.

Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.

Kehrer M, Beckmann A, Wyduba J, Finckh U, Dufke A, Gaiser U, Tzschach A.

Clin Genet. 2014 May;85(5):498-9. doi: 10.1111/cge.12199. Epub 2013 Jun 13. No abstract available.

PMID:
23763483
7.

Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.

Reschen M, Kini U, Hood RL, Boycott KM, Hurst J, O'Callaghan CA.

Am J Med Genet A. 2012 Dec;158A(12):3196-200. doi: 10.1002/ajmg.a.35635. Epub 2012 Nov 19.

PMID:
23165645
8.

When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.

Messina G, Atterrato MT, Dimitri P.

J Med Genet. 2016 Dec;53(12):793-797. doi: 10.1136/jmedgenet-2016-103842. Epub 2016 Apr 26. Review.

PMID:
27208210
9.

Chiari I malformation as part of the Floating-Harbor syndrome?

Kurzbuch AR, Magdum S.

Eur J Med Genet. 2016 Dec;59(12):615-617. doi: 10.1016/j.ejmg.2016.10.011. Epub 2016 Nov 1.

PMID:
27815143
10.

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

Lopez E, Callier P, Cormier-Daire V, Lacombe D, Moncla A, Bottani A, Lambert S, Goldenberg A, Doray B, Odent S, Sanlaville D, Gueneau L, Duplomb L, Huet F, Aral B, Thauvin-Robinet C, Faivre L.

Am J Med Genet A. 2012 Feb;158A(2):333-9. doi: 10.1002/ajmg.a.34401. Epub 2012 Jan 13.

PMID:
22247066
11.

Floating-Harbor Syndrome: report on a case in a mother and daughter, further evidence of autosomal dominant inheritance.

Arpin S, Afenjar A, Dubern B, Toutain A, Cabrol S, Héron D.

Clin Dysmorphol. 2012 Jan;21(1):11-4. doi: 10.1097/MCD.0b013e32834af5a7.

PMID:
21955542
12.

The human SRCAP chromatin remodeling complex promotes DNA-end resection.

Dong S, Han J, Chen H, Liu T, Huen MSY, Yang Y, Guo C, Huang J.

Curr Biol. 2014 Sep 22;24(18):2097-2110. doi: 10.1016/j.cub.2014.07.081. Epub 2014 Aug 28.

13.

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

Douglas J, Hanks S, Temple IK, Davies S, Murray A, Upadhyaya M, Tomkins S, Hughes HE, Cole TR, Rahman N.

Am J Hum Genet. 2003 Jan;72(1):132-43. Epub 2002 Dec 2.

14.

Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.

García RJ, Kant SG, Wit JM, Mericq V.

J Pediatr Endocrinol Metab. 2012;25(1-2):207-12.

PMID:
22570979
15.

Floating Harbor syndrome. Case report and further syndrome delineation.

Midro AT, Olchowik B, Rogowska M, Hubert E, Hassman-Poznańska E, Papasz A, Szulc S, Wiśniewski A.

Ann Genet. 1997;40(3):133-8.

PMID:
9401100
16.

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.

Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N.

Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8.

17.

16p11.2 de novo microdeletion encompassing SRCAP gene in a patient with speech impairment, global developmental delay and behavioural problems.

Gerundino F, Marseglia G, Pescucci C, Pelo E, Benelli M, Giachini C, Federighi B, Antonelli C, Torricelli F.

Eur J Med Genet. 2014 Nov-Dec;57(11-12):649-53.

PMID:
25451714
18.

Growth hormone deficiency: an unusual presentation of floating harbor syndrome.

Galli-Tsinopoulou A, Kyrgios I, Emmanouilidou E, Maggana I, Kotanidou E, Kokka P, Stylianou C.

Hormones (Athens). 2011 Jul-Sep;10(3):236-40.

19.

Mutchinick syndrome in a Japanese girl.

Tonoki H, Hattori T, Kamoshida H, Ohta Y, Niikawa N.

Am J Med Genet. 1999 Mar 12;83(2):96-9.

PMID:
10190479
20.

Two hits in one: whole genome sequencing unveils LIG4 syndrome and urofacial syndrome in a case report of a child with complex phenotype.

Fadda A, Butt F, Tomei S, Deola S, Lo B, Robay A, Al-Shakaki A, Al-Hajri N, Crystal R, Kambouris M, Wang E, Marincola FM, Fakhro KA, Cugno C.

BMC Med Genet. 2016 Nov 17;17(1):84.

Supplemental Content

Support Center